# SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/sox2-anophthalmia-syndrome-12-new-cases-demonstrating-broader-phenotype-and-high/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Preeti Bakrania,David Robinson,David J. Bunyan,Alison Salt,Angela Martin,John A. Crolla,Alexander W. Wyatt,Alistair R. Fielder,John Ainsworth,Anthony T. Moore,Steven P. Read,Jimmy Uddin,D Laws,Dora Pascuel-Salcedo,Carmen Ayuso,Louise Allen,J. R. O. Collin,Nicola Ragge |
| Citations | 113 |
| DOI | 10.1136/bjo.2007.117929 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/2095460 |
| OpenAlex ID | https://openalex.org/W2107333442 |
| PMID | 17522144 |
| Type | article |
| Year | 2007 |

## Paper authors

- [J. R. O. Collin](https://scholariq.org/researchers/j-r-o-collin/)

## Paper journal

- [British Journal of Ophthalmology](https://scholariq.org/journals/british-journal-of-ophthalmology/)

## Paper primary topic

- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)

## Paper topics

- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)
- [Intraocular Surgery and Lenses](https://scholariq.org/topics/intraocular-surgery-and-lenses/)
- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.
